Mutagenetix > Incidental Mutation

Incidental Mutation 'R1624:Megf6'

174872

Institutional Source

Beutler Lab

Gene Symbol

Megf6

Ensembl Gene

ENSMUSG00000057751

Gene Name

multiple EGF-like-domains 6

Synonyms

2600001P17Rik, Egfl3

MMRRC Submission

039661-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154170730-154275713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 154177121 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 68 (V68L)

Ref Sequence

ENSEMBL: ENSMUSP00000030897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030897]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030897
AA Change: V68L

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
AA Change: V68L

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
EGF_CA	122	162	1.54e-6	SMART
EGF_CA	163	203	2.08e-12	SMART
EGF	207	245	5.4e-2	SMART
EGF	249	286	2.39e-3	SMART
EGF_CA	287	327	4.96e-10	SMART
EGF	336	373	1.64e-1	SMART
EGF	377	413	1.99e1	SMART
EGF_CA	414	454	7.4e-9	SMART
EGF	521	554	4.26e0	SMART
EGF_Lam	570	609	1.19e-3	SMART
EGF_like	613	652	5.29e-1	SMART
EGF	642	685	2.2e1	SMART
EGF_Lam	656	697	1.04e-3	SMART
EGF	687	730	1.59e1	SMART
EGF_like	701	742	2.27e0	SMART
EGF_Lam	746	784	1.33e-1	SMART
EGF	783	816	2.85e-1	SMART
EGF_Lam	832	871	3.88e-3	SMART
EGF_Lam	875	915	3.25e-5	SMART
EGF	914	946	4.7e-2	SMART
EGF_like	962	1001	1.69e-1	SMART
EGF	1000	1032	7.02e-1	SMART
EGF_Lam	1048	1087	3.1e-2	SMART
EGF	1077	1118	7.53e-1	SMART
EGF_like	1091	1130	5.59e-1	SMART
EGF	1129	1161	5.04e-2	SMART
EGF_Lam	1177	1216	2.94e-3	SMART
EGF	1206	1248	1.87e1	SMART
EGF_Lam	1220	1260	3.1e-2	SMART
EGF	1259	1291	1.73e0	SMART
EGF	1302	1334	6.55e-1	SMART
EGF	1345	1377	4.39e-2	SMART
EGF_Lam	1393	1432	7.64e-2	SMART
EGF_Lam	1436	1475	2.64e-5	SMART
EGF_like	1465	1506	4.2e1	SMART
EGF_Lam	1479	1518	1.19e-3	SMART
EGF	1517	1549	1.84e1	SMART

Meta Mutation Damage Score

0.0895

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 95.9%
20x: 91.4%

Validation Efficiency

99% (90/91)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	C	16: 21,653,746	Y68C	probably damaging	Het
6820408C15Rik	A	T	2: 152,434,111	H81L	probably damaging	Het
Acbd4	A	G	11: 103,103,959	T48A	probably damaging	Het
Acpp	T	A	9: 104,320,001	E146D	probably benign	Het
Acsm1	T	A	7: 119,652,573	I307N	probably damaging	Het
Adcy4	T	C	14: 55,781,927	T89A	possibly damaging	Het
Agl	T	C	3: 116,787,246	T356A	probably benign	Het
Ago1	A	G	4: 126,463,741	I47T	probably damaging	Het
Akr1c6	T	A	13: 4,446,364	Y75N	probably benign	Het
Anxa2	T	A	9: 69,479,708	S92T	probably benign	Het
Arid4b	T	C	13: 14,184,394	S585P	probably damaging	Het
Arl4d	T	C	11: 101,667,016	S123P	possibly damaging	Het
Atad2	A	T	15: 58,100,019	D1067E	probably damaging	Het
Brap	C	A	5: 121,682,859	T403K	possibly damaging	Het
Brwd1	A	T	16: 96,008,144	N1895K	possibly damaging	Het
Ccdc187	T	C	2: 26,281,075	T464A	probably benign	Het
Cdh11	T	C	8: 102,664,601		probably benign	Het
Chd9	A	T	8: 90,998,535	Y691F	probably benign	Het
Clhc1	A	T	11: 29,569,287	I365F	possibly damaging	Het
Col11a1	A	G	3: 114,158,155	Q1078R	probably damaging	Het
Creb3	G	A	4: 43,566,375	V294I	possibly damaging	Het
Cspg4	T	C	9: 56,888,470	I1163T	probably damaging	Het
Cyp3a57	A	C	5: 145,390,415		probably null	Het
Dnah3	A	T	7: 120,019,695	I1661N	probably damaging	Het
Dpysl4	A	C	7: 139,089,553	D49A	probably damaging	Het
Efhb	T	A	17: 53,426,278	I522F	probably damaging	Het
Epha4	T	C	1: 77,399,692	T517A	probably damaging	Het
Fasn	A	G	11: 120,813,111	S1466P	probably damaging	Het
Fgd6	A	T	10: 94,137,436	D1253V	probably benign	Het
Fjx1	G	A	2: 102,451,164	A142V	probably benign	Het
Foxb1	T	C	9: 69,759,316	T311A	probably benign	Het
Fpgs	A	G	2: 32,691,188		probably null	Het
Gm10024	A	G	10: 77,711,772		probably null	Het
Gnat3	A	T	5: 18,003,843	T182S	possibly damaging	Het
Igsf3	T	A	3: 101,455,227	F875I	probably benign	Het
Kif13b	A	G	14: 64,738,619	E461G	probably damaging	Het
Kif23	A	T	9: 61,925,700		probably null	Het
Kntc1	G	A	5: 123,758,477	R134Q	possibly damaging	Het
Krt33a	A	T	11: 100,014,246	Y145N	probably damaging	Het
Lama5	A	G	2: 180,206,758	V313A	probably benign	Het
Lamb1	T	C	12: 31,278,652		probably null	Het
Mtor	C	T	4: 148,547,676	L2336F	probably damaging	Het
Naglu	T	C	11: 101,076,525	S434P	probably damaging	Het
Ncoa7	T	A	10: 30,704,659	H101L	possibly damaging	Het
Nlrc4	G	A	17: 74,445,189	T733I	possibly damaging	Het
Nr3c2	A	G	8: 76,909,944	E558G	probably damaging	Het
Nsun4	A	T	4: 116,034,200	N327K	probably benign	Het
Olfr1310	T	A	2: 112,008,532	Y218F	probably damaging	Het
Olfr165	T	A	16: 19,407,704	Y104F	probably benign	Het
Olfr524	T	C	7: 140,201,951	N273S	probably damaging	Het
Olfr54	T	C	11: 51,027,125	V41A	probably damaging	Het
Olfr743	A	G	14: 50,533,643	Y77C	probably damaging	Het
Pdia2	T	A	17: 26,196,521	I441F	probably damaging	Het
Phyh	T	C	2: 4,925,683	S74P	probably benign	Het
Pigo	A	G	4: 43,024,661	L146P	probably damaging	Het
Plce1	A	G	19: 38,724,775	D1191G	probably damaging	Het
Plrg1	T	C	3: 83,067,994		probably benign	Het
Plrg1	G	A	3: 83,069,744	R364Q	probably damaging	Het
Polr3b	T	C	10: 84,679,805	L614S	probably damaging	Het
Pramef25	A	T	4: 143,949,830	C235S	possibly damaging	Het
Prrg4	A	G	2: 104,832,682	V193A	probably damaging	Het
Prss16	T	A	13: 22,003,313	E47V	probably benign	Het
Ptpru	G	A	4: 131,772,550	T1261I	probably damaging	Het
Pycard	A	G	7: 127,992,798	S124P	possibly damaging	Het
Riok1	C	A	13: 38,037,511	D17E	probably damaging	Het
Scin	T	A	12: 40,127,930	Y102F	probably benign	Het
Scmh1	A	G	4: 120,529,228	H655R	probably damaging	Het
Scyl2	A	T	10: 89,640,736	N842K	probably benign	Het
Sec23b	T	A	2: 144,567,129	M211K	probably benign	Het
Serpina3i	A	C	12: 104,268,638	*409C	probably null	Het
Sgk2	G	A	2: 162,997,859	R129H	probably benign	Het
Slc39a13	A	G	2: 91,068,526	I80T	probably damaging	Het
Smarcad1	A	G	6: 65,052,647	D73G	probably benign	Het
Spata18	A	C	5: 73,669,545	T276P	probably damaging	Het
Srgap1	T	G	10: 121,855,373	M319L	probably benign	Het
Stx7	T	A	10: 24,185,005	V210E	probably damaging	Het
Tjp2	T	A	19: 24,131,412	H112L	probably benign	Het
Tuba8	A	T	6: 121,220,426	I16F	probably damaging	Het
Ube3c	G	A	5: 29,646,619	A815T	probably benign	Het
Vmn2r5	A	T	3: 64,509,695	V14E	probably benign	Het
Vmn2r79	A	T	7: 87,004,039		probably null	Het
Wisp3	G	A	10: 39,153,243	R230W	probably damaging	Het
Zdbf2	A	G	1: 63,303,859	T466A	possibly damaging	Het

Other mutations in Megf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Megf6	APN	4	154253807	missense	probably damaging	1.00
IGL01410:Megf6	APN	4	154252563	critical splice donor site	probably null
IGL01512:Megf6	APN	4	154262583	missense	possibly damaging	0.64
IGL01824:Megf6	APN	4	154252234	missense	probably damaging	1.00
IGL02172:Megf6	APN	4	154270692	missense	probably damaging	1.00
IGL02727:Megf6	APN	4	154253149	splice site	probably null
IGL02966:Megf6	APN	4	154253777	missense	probably damaging	1.00
Didactic	UTSW	4	154254587	missense	probably damaging	1.00
R0118:Megf6	UTSW	4	154254641	missense	probably damaging	0.99
R0220:Megf6	UTSW	4	154258215	missense	probably damaging	1.00
R0347:Megf6	UTSW	4	154254635	missense	possibly damaging	0.90
R0383:Megf6	UTSW	4	154265326	missense	probably benign	0.01
R0417:Megf6	UTSW	4	154267967	missense	probably benign	0.06
R0526:Megf6	UTSW	4	154258941	missense	probably benign
R0528:Megf6	UTSW	4	154259173	missense	probably benign	0.04
R0928:Megf6	UTSW	4	154177047	missense	probably damaging	1.00
R1311:Megf6	UTSW	4	154263782	splice site	probably null
R1458:Megf6	UTSW	4	154177121	missense	probably benign	0.39
R1470:Megf6	UTSW	4	154252419	splice site	probably benign
R1476:Megf6	UTSW	4	154177121	missense	probably benign	0.39
R1479:Megf6	UTSW	4	154177121	missense	probably benign	0.39
R1626:Megf6	UTSW	4	154177121	missense	probably benign	0.39
R1638:Megf6	UTSW	4	154262510	splice site	probably benign
R1777:Megf6	UTSW	4	154270690	nonsense	probably null
R1831:Megf6	UTSW	4	154270677	missense	probably benign	0.00
R1944:Megf6	UTSW	4	154256066	missense	possibly damaging	0.75
R1984:Megf6	UTSW	4	154267667	missense	probably damaging	1.00
R2109:Megf6	UTSW	4	154177121	missense	probably benign	0.39
R2448:Megf6	UTSW	4	154266645	splice site	probably null
R2880:Megf6	UTSW	4	154252549	missense	probably damaging	1.00
R4032:Megf6	UTSW	4	154177093	nonsense	probably null
R4058:Megf6	UTSW	4	154242532	splice site	probably benign
R4672:Megf6	UTSW	4	154249452	missense	probably damaging	0.99
R4688:Megf6	UTSW	4	154253814	missense	probably damaging	0.99
R4752:Megf6	UTSW	4	154252438	missense	probably damaging	1.00
R4863:Megf6	UTSW	4	154254281	critical splice donor site	probably null
R4909:Megf6	UTSW	4	154265391	missense	probably damaging	1.00
R4942:Megf6	UTSW	4	154253820	missense	probably damaging	1.00
R4981:Megf6	UTSW	4	154267450	missense	possibly damaging	0.95
R4990:Megf6	UTSW	4	154267226	missense	possibly damaging	0.94
R5001:Megf6	UTSW	4	154268060	missense	probably damaging	1.00
R5189:Megf6	UTSW	4	154252523	missense	probably benign	0.31
R5210:Megf6	UTSW	4	154269816	intron	probably benign
R5220:Megf6	UTSW	4	154253838	critical splice donor site	probably null
R5250:Megf6	UTSW	4	154256010	missense	possibly damaging	0.65
R5697:Megf6	UTSW	4	154258229	missense	probably null	0.15
R5808:Megf6	UTSW	4	154267662	missense	probably benign
R5916:Megf6	UTSW	4	154249425	critical splice acceptor site	probably null
R6054:Megf6	UTSW	4	154263179	missense	probably benign	0.06
R6075:Megf6	UTSW	4	154262599	nonsense	probably null
R6515:Megf6	UTSW	4	154258919	missense	possibly damaging	0.84
R6599:Megf6	UTSW	4	154258087	splice site	probably null
R6811:Megf6	UTSW	4	154252161	missense	probably damaging	1.00
R6925:Megf6	UTSW	4	154254587	missense	probably damaging	1.00
R7023:Megf6	UTSW	4	154254145	missense	possibly damaging	0.95
R7117:Megf6	UTSW	4	154258922	missense	possibly damaging	0.78
R7163:Megf6	UTSW	4	154267441	missense	probably damaging	0.98
R7345:Megf6	UTSW	4	154267315	missense	probably benign
R7580:Megf6	UTSW	4	154270744	nonsense	probably null
R7649:Megf6	UTSW	4	154265085	missense	probably damaging	0.96
R7702:Megf6	UTSW	4	154270470	missense	probably benign	0.00
R8010:Megf6	UTSW	4	154270507	missense	probably benign	0.13
R8175:Megf6	UTSW	4	154268619	nonsense	probably null
R8231:Megf6	UTSW	4	154252518	missense	probably damaging	1.00
R8436:Megf6	UTSW	4	154265192	missense	probably damaging	1.00
R8460:Megf6	UTSW	4	154266177	nonsense	probably null
R8738:Megf6	UTSW	4	154267979	missense	probably benign
R8854:Megf6	UTSW	4	154268012	missense	probably damaging	1.00
R8896:Megf6	UTSW	4	154242403	missense	probably damaging	0.99
R9098:Megf6	UTSW	4	154269703	missense	probably damaging	0.99
R9147:Megf6	UTSW	4	154254673	missense	probably benign	0.18
R9148:Megf6	UTSW	4	154254673	missense	probably benign	0.18
R9161:Megf6	UTSW	4	154267715	missense	probably benign	0.44
R9355:Megf6	UTSW	4	154253825	missense	probably damaging	1.00
R9386:Megf6	UTSW	4	154256077	missense	probably damaging	1.00
R9404:Megf6	UTSW	4	154263768	missense
R9469:Megf6	UTSW	4	154250912	missense	probably damaging	1.00
R9472:Megf6	UTSW	4	154249453	missense	probably damaging	1.00
R9777:Megf6	UTSW	4	154259160	missense	probably damaging	1.00
Z1177:Megf6	UTSW	4	154237826	missense	probably benign	0.12
Z1177:Megf6	UTSW	4	154250849	missense	probably damaging	1.00
Z1177:Megf6	UTSW	4	154267681	missense	possibly damaging	0.48
Z1177:Megf6	UTSW	4	154267682	missense	probably damaging	0.99
Z1177:Megf6	UTSW	4	154267747	nonsense	probably null
Z1177:Megf6	UTSW	4	154269741	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTATTAGGGACAGCCCCATGCAGC -3'
(R):5'- TGAAAGGCCATGCCCTCAGTAAAG -3'

Sequencing Primer
(F):5'- CTTGTCCTGGAGTCCCAAGTG -3'
(R):5'- CATGCCCTCAGTAAAGGGAATG -3'

Posted On

2014-04-24